Results 61 to 70 of about 38,348 (306)

Biochemical investigations in glycogen storage disease

The Turkish Journal of Pediatrics, 1963
Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
P Ozand, M Onay, S Balci, S Amiri
doaj  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Glycogen Storage Disease [PDF]

Proceedings of the Royal Society of Medicine, 1965
S. Van Creveld, F. Huijing
openaire   +3 more sources

Back Again to the Future: A New Era for Cerebroprotection

Annals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

Animal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem, Samy A. Elsaadawy, Zhaohai Wu, Lu Ma, Todd R. Callaway, Dengpan Bu   +5 more
wiley   +1 more source

Glycogen storage disease presenting as Cushing syndrome

JIMD Reports, 2019
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have “cherubic” facies similar to the “moon” facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation
Margaret A. Stefater, Joseph I. Wolfsdorf, Nina S. Ma, Joseph A. Majzoub   +3 more
doaj   +1 more source

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

The Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu, Gamze Özgürhan, Bahar Çaran, Evrim Meydan-Aksanlı, Ece Keskin   +4 more
doaj   +1 more source

Efficacy and safety of empagliflozin for treating neutropenia and neutrophil dysfunction in paediatric patients with glycogen storage disease type Ib: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Glycogen storage disease type Ib (GSD‐Ib) is a rare genetic disorder causing neutropenia and neutrophil dysfunction in children. G‐CSF has been the primary treatment, but emerging data support the potential of empagliflozin, an SGLT2 inhibitor, as a promising investigational option.
Elizabeth Iwasyk, Ryan Jin, Fabio Tuzzolino, Giusy Ranucci, Donatella Madonia, Alessio Provenzani   +5 more
wiley   +1 more source

Neuronal differentiation and tissue engineering strategies for central neurous system injury repair

BMEMat, EarlyView.
This review outlines tissue engineering advances for central nervous system (CNS) injury treatment, focusing on three core components: seed cells, inductive factors, and scaffold materials, with evaluation of their respective strengths and limitations. Tissue engineering for CNS injury repair.
Zhuqing Xia, Jinghui Zhang, Na Ren, Shuping Wang, Congcong Zhang, Nik Ahmad Nizam Nik Malek, Wan Hairul Anuar Kamaruddin, Chao Liu, Chunhui Sun, Jingang Wang   +9 more
wiley   +1 more source

Exploring the Anti‐Diabetic Potential of Anthocyanins: From Biochemical Pathways to Human Trials

Chronic Diseases and Translational Medicine, EarlyView.
ABSTRACT Diabetes mellitus (DM) is a global health challenge with increasing prevalence rates, particularly in low‐ and middle‐income countries. Anthocyanins (ACs) are potential bioactive compounds found in various fruits and vegetables, attracting the attention of researchers due to their possible role in managing diabetes and its complications ...
Lakshay Panchal, Sangeeta Yadav, Akash Kumar, Tanbeer Kaur, Yashna Bawa, Sarvesh Rustagi, Rahul Mehra   +6 more
wiley   +1 more source